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Epilepsy mechanism investigation and therapy development

Research Project

Project/Area Number 25253073
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Psychiatric science
Research InstitutionInstitute of Physical and Chemical Research

Principal Investigator

Yamakawa Kazuhiro  国立研究開発法人理化学研究所, 脳科学総合研究センター, チームリーダー (30241235)

Research Collaborator SUZUKI Toshimitsu  国立研究開発法人理化学研究所, 脳科学総合研究センター, 研究員
Project Period (FY) 2013-05-31 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥44,330,000 (Direct Cost: ¥34,100,000、Indirect Cost: ¥10,230,000)
Fiscal Year 2017: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
Fiscal Year 2016: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
Fiscal Year 2015: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
Fiscal Year 2014: ¥10,400,000 (Direct Cost: ¥8,000,000、Indirect Cost: ¥2,400,000)
Fiscal Year 2013: ¥11,440,000 (Direct Cost: ¥8,800,000、Indirect Cost: ¥2,640,000)
Keywordsてんかん / 遺伝子 / 若年ミオクロニーてんかん / 原因遺伝子 / 疾患動物モデル / マウスモデル / 治療 / JME / EFHC1 / 上衣細胞 / TRPM2
Outline of Final Research Achievements

Juvenile myoclonic epilepsy (JME) is the most frequent epilepsy. In this study, we identified ICK (intestinal cell kinase) as the gene responsible for JME, the disease mutations interfere neuronal migration, and Ick knockout mouse showed an increased siesure susceptibility to isoflirane(Bailey et al, New Eng J Med 378:1018-28, 2018). Similarly to the EFHC1 that we previously reported as a JME gene, ICK also play roles in microtubule regulation and neural cell migration suggesting an overlapping pathomechanism for JME.

Report

(6 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Annual Research Report
  • 2015 Annual Research Report
  • 2014 Annual Research Report
  • 2013 Annual Research Report
  • Research Products

    (9 results)

All 2018 2016 Other

All Int'l Joint Research (4 results) Journal Article (2 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 2 results) Remarks (3 results)

  • [Int'l Joint Research] UCLA(米国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] University of Liege(Belgium)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] UCLA(米国)

    • Related Report
      2016 Annual Research Report
  • [Int'l Joint Research] University of Liege(Belgium)

    • Related Report
      2016 Annual Research Report
  • [Journal Article] Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy2018

    • Author(s)
      Bailey Julia N.、de Nijs Laurence、Bai Dongsheng、Suzuki Toshimitsu、Miyamoto Hiroyuki、Yamakawa Kazuhiro、Lakaye Bernard、Delgado-Escueta Antonio V. et al.
    • Journal Title

      New England Journal of Medicine

      Volume: 378 Issue: 11 Pages: 1018-1028

    • DOI

      10.1056/nejmoa1700175

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] EFHC1 variants in Juvenile Myoclonic Epilepsy: Reanalysis according to NHGRI and ACMG Guidelines for assigning disease causality2016

    • Author(s)
      Bailey JN, Patterson C, de Nijs L, Duron RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martinez-Juarez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV.
    • Journal Title

      Genetics in Medicine

      Volume: 19 Issue: 2 Pages: 144-156

    • DOI

      10.1038/gim.2016.86

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Remarks] てんかん原因遺伝子ICKの発見 -若年ミオクロニーてんかんの共通発症メカニズムを提示-

    • URL

      http://www.riken.jp/pr/press/2018/20180315_1/

    • Related Report
      2017 Annual Research Report
  • [Remarks] 理化学研究所  脳科学総合研究センター 神経遺伝研究チーム

    • URL

      http://www.brain.riken.jp/labs/ngs/indexj.html

    • Related Report
      2014 Annual Research Report
  • [Remarks] 独立行政法人理化学研究所  脳科学総合研究センター 神経遺伝研究チーム

    • URL

      http://www.brain.riken.jp/labs/ngs/indexj.html

    • Related Report
      2013 Annual Research Report

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Published: 2013-06-20   Modified: 2022-02-28  

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